A retrospective cohort analysis of the Yale pediatric genomics discovery program-Reference-Cited by-同舟云学术

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A retrospective cohort analysis of the Yale pediatric genomics discovery program

Published:2022-07-28 Issue:10 Volume:188 Page:2869-2878
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Al‐Ali Samir¹^ORCID,Jeffries Lauren¹^ORCID,Faustino E. Vincent S.¹,Ji Weizhen¹,Mis Emily¹,Konstantino Monica¹,Zerillo Cynthia¹,Jiang Yong‐hui¹²,Spencer‐Manzon Michele¹²,Bale Allen²,Zhang Hui²,McGlynn Julie¹²,McGrath James M.²,Tremblay Thierry³,Brodsky Nina N.¹,Lucas Carrie L.⁴,Pierce Richard¹,Deniz Engin¹,Khokha Mustafa K.¹²,Lakhani Saquib A.¹^ORCID

Affiliation:

1. Pediatric Genomics Discovery Program, Department of Pediatrics Yale University School of Medicine New Haven Connecticut USA

2. Department of Genetics Yale University School of Medicine New Haven Connecticut USA

3. Kohezion Quebec Canada

4. Department of Immunobiology Yale University School of Medicine New Haven Connecticut USA

Funder

National Institutes of Health

Yale New Haven Hospital

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62918

Reference48 articles.

1. A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype

2. Trends in Health Care Spending for Children in Medicaid With High Resource Use

3. Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome

4. DYNC1H1 ‐related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants

5. Mendelian Gene Discovery: Fast and Furious with No End in Sight

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